Results 71 to 80 of about 452,408 (160)

Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation

Molecular Genetics and Metabolism Reports
IntroductionCobalamin c deficiency (cblC), an inborn error of vitamin B12 metabolism, is caused by mutations of the MMACHC gene. It usually leads to a multisystemic disease; 50% of all patients with cblC have various structural heart defects.
Clara Hjalmarsson, Charlotte Backelin, Anders Thoren, Niklas Bergh, Jennifer L. Sloan, Irini Manoli, Charles P. Venditti, Göran Dellgren   +7 more
doaj   +1 more source

Lower Plasma Antioxidant Defense and Heat Shock Proteins Mark Intra‐Amniotic Sludge Ultrasound Finding

Journal of Ultrasound in Medicine, Volume 45, Issue 5, Page 1083-1094, May 2026.
Objectives Intra‐amniotic sludge is an independent risk factor for preterm birth. It consists of a biophysical sonographic finding in the amniotic fluid, formed by dense echogenic particles near the cervical internal orifice, due to sterile or infectious inflammatory processes.
Clarissa Chavez Ortiz Roberto, Lílian Corrêa Costa‐Beber, Lucas Machado Sulzbacher, Jaíne Borges dos Santos, Anna Karolina Kretschmann Florencio de Souza Bagetti, Eduardo Becker Jr, Matias Nunes Frizzo, Thiago Gomes Heck, Mirna Stela Ludwig   +8 more
wiley   +1 more source

Additional file 1 of Analysis of hydroxocobalamin dosage in patients with CblC deficiency

Supplementary Material ...
Ding, Si, Deng, Yuxin, Ding, Yi, Hao, Lili, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Chen, Ting, Zhan, Xia, Xu, Peng, Yang, Chiju, Zou, Hui, Chen, Yongxing, Wu, Shengnan, Wang, Yufeng, Yang, Min, Gu, Xuefan, Jiao, Xianting, Han, Lianshu   +18 more
openaire   +1 more source

Analysis of the Matrix Metalloproteinases Family Profile in Gastric Cancer Suggests Key Matrix Metalloproteinases for Tumor Development and Their Clinical Impact

Molecular Carcinogenesis, Volume 65, Issue 5, Page 577-588, May 2026.
ABSTRACT Gastric cancer (GC) is the fifth most common type worldwide, representing a public health problem. Among the genes related to this tumorigenesis, the family of matrix metalloproteinases (MMPs), essential regulators of the extracellular matrix (ECM), stand out for their involvement in the development and progression of GC.
Aline Costa Bastos, André Salim Khayat, Emanuele Raimunda Louzada Moraes, Ágatha Tereza Miranda Tavares, Ronald Matheus da Silva Mourão, Fabiano Cordeiro Moreira, Samir Mansour Moraes Casseb, Samia Demachki, Geraldo Ishak, Williams Fernandes Barra, Rommel Mario Rodríguez Burbano, Paulo Pimentel de Assumpção   +11 more
wiley   +1 more source

Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency

, 2019
The most common disorder of vitamin B12 metabolism is methylmalonic aciduria and homocystinuria type cobalamin C (cblC), which accounts for most of the cases is referred to as cblC deficiency.
TOPALOĞLU, REZAN, Inozu, Mihriban, COŞKUN, TURGAY, GÜLHAN, BORA, TALİM, BERİL, BİLGİNER GÜRBÜZ, BERRAK   +5 more
core   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

[Kidney disease in cobalamin C deficiency].

, 2019
International audienceCobalamin C deficiency (cblC) is the most common inborn error of vitamin B12 metabolism. This autosomal recessive disease is due to mutations in MMACHC gene, encoding a cyanocobalamin decyanase.
Guerrot, Dominique, Lemoine, Mathilde, Grangé, Steven   +2 more
core   +1 more source

LDL Cholesterol Modulates Astrocyte Metabolism, Lipid Handling, and Morphology: Evidence From In Vitro and In Vivo Models

Journal of Neurochemistry, Volume 170, Issue 3, March 2026.
In vitro, low‐density lipoprotein cholesterol (LDL cholesterol) promotes the accumulation of lipid derivatives in astrocytes. Additionally, LDL cholesterol exposure causes a decrease in the expression of low‐density lipoprotein receptor (LDLr), 3‐hydroxy‐3‐methylglutaryl‐CoA reductase (HMGCR), and sterol regulatory element‐binding transcription factor ...
Gabriela Joras Baumart, Matheus Scarpatto Rodrigues, Juliete Nathali Sholl, Arieli Cruz de Sousa, Augusto Ferreira Weber, Lílian Corrêa Costa‐Beber, Hémelin Resende Farias, Mariana Viana Costa, Ariadni Mesquita Peres, Pedro Rocha de Camargo, Fernanda Telles Fróes, Rachel Krolow Bast, Andreza Fabro de Bem, Fabrício Figueiró, Fátima T. C. R. Guma, Jade de Oliveira   +15 more
wiley   +1 more source

CBLC regulates Golgi ribbon formation.

, 2015
(A) Immunostaining of Golgi using Mannosidase II (green), TGN46 (red) and Giantin (white). Scale bar = 10 μm (B, C) Electron microscopy reveals intact but shorter Golgi stacks in CBLC-depleted cells. Scale bar = 0.5 μm.
Adrian Boey (573783), Frederic Bard (798730), Germaine Goh (798727), Joanne Chia (798728), Natalia V. Gunko (798729), Wan Yin Lee (798726)   +5 more
core   +1 more source

Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia

Clinical Case Reports, Volume 14, Issue 2, February 2026.
Proposed mechanistic model of mutation‐related outcomes. ABSTRACT A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post‐parenteral B12.
Thomas Cluzeau, Abderrahim Oussalah, Maël Silva Rodriguez, Mourad Naïmi   +3 more
wiley   +1 more source